Many diseases or disorders are characterized by disruptions in protein expression or activity, or in cellular signaling pathways that lead to aberrant control of cellular processes or to uncontrolled growth and proliferation of cells. These disruptions are often caused by genetic changes (also called mutations) or other changes that affect the activity or expression of particular proteins. Diagnosis and/or selection of treatment for many disorders include identification of particular genetic changes in a sample from a subject known or suspected of having a particular disorder.
There is a need for continued development of diagnostic tests and methods to detect mutations and molecular signatures implicated in the onset and progression of human disease. Such methods and diagnostic tests will, among other things, facilitate the screening of new drugs, as well as development of methods to select patients for therapy and monitor the responsiveness of patients to targeted therapy.